V36A (p.Val36Ala) variant of CALM1 (Calmodulin-1)
V36A (p.Val36Ala) in CALM1 (Calmodulin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
V36A (p.Val36Ala) variant details
- p.Val36Ala
- NCI-TCGA TCGA novel
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.88
- MetaLR 0.76
- MetaSVM 0.66
- CADD 25.40
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available